Investigating Genetic Causes of Mendelian Congenital Myopathies

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Investigating Genetic Causes of Mendelian Congenital Myopathies

This thesis investigates the genetic aetiology of congenital myopathy in families with an unresolved genetic diagnosis. In two families, massively parallel sequencing and functional analyses identified two genetic candidates: a regulatory variant (c.*152G>T) and multi-exon deletion in a known dis...

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Bibliographic Details
Main Author:	Dofash, Lein
Format:	Thesis
Published:	Curtin University 2022
Online Access:	http://hdl.handle.net/20.500.11937/88348

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